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Title: Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy
Authors: Schollen, E ×
Vandenberk, P
Cassiman, Jean-Jacques
Matthijs, Gert #
Issue Date: Jan-1997
Series Title: Clinical Chemistry vol:43 issue:1 pages:18-23
Abstract: We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the products were hybridized to the membrane. Detection is based on chemiluminescence. To test the developed assay, 47 patients suspected of having LHON were screened. In 11 cases (23%) the diagnosis of LHON could be confirmed (3460, 1; 9804, 1; 11778, 5; 14484, 3; 15257, 1). The results suggest that the clinical identification of the mitochondrial defect is not trivial and the availability of a rapid screening method simplifies the molecular analysis of these cases.
ISSN: 0009-9147
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Clinical Genetics Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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